Abstract
A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.
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- Ayraud N., Rovinski J., Lambert J. C., Galiana A. Délétion interstitielle du bras long d'un chromosome 7 chez une enfant lepréchaune. Ann Genet. 1976 Dec;19(4):265–268. [PubMed] [Google Scholar]
- Franceschini P., Silengo M. C., Davi G. F., Santoro M. A., Prandi G., Fabris C. Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter). Hum Genet. 1978 Nov 16;44(3):345–348. doi: 10.1007/BF00394300. [DOI] [PubMed] [Google Scholar]
- Higginson G., Weaver D. D., Magenis R. E., Prescott G. H., Haag C., Hepburn D. J. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clin Genet. 1976 Nov;10(5):307–312. doi: 10.1111/j.1399-0004.1976.tb00053.x. [DOI] [PubMed] [Google Scholar]
- Klep-de Pater J. M., Bijlsma J. B., Bleeker-Wagemakers E. M., de France H. F., de Vries-Ekkers C. M. Two cases with different deletions of the long arm of chromosome 7. J Med Genet. 1979 Apr;16(2):151–154. doi: 10.1136/jmg.16.2.151. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978 Nov 16;44(3):227–275. doi: 10.1007/BF00394291. [DOI] [PubMed] [Google Scholar]
- Serup L. Interstitial deletion of the long arm of chromosome 7. Hum Genet. 1980;54(1):19–23. doi: 10.1007/BF00279044. [DOI] [PubMed] [Google Scholar]
- Stallard R., Juberg R. C. Partial monosomy 7q syndrome due to distal interstitial deletion. Hum Genet. 1981;57(2):210–213. doi: 10.1007/BF00282026. [DOI] [PubMed] [Google Scholar]